NM_000384.3(APOB):c.819-2A>G AND Familial hypobetalipoproteinemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2002
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000019487.35

Allele description [Variation Report for NM_000384.3(APOB):c.819-2A>G]

NM_000384.3(APOB):c.819-2A>G

Gene:

APOB:apolipoprotein B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p24.1

Genomic location:

Preferred name:

NM_000384.3(APOB):c.819-2A>G

HGVS:

NC_000002.12:g.21034903T>C
NG_011793.1:g.14171A>G
NG_011793.2:g.14170A>G
NM_000384.3:c.819-2A>GMANE SELECT
NC_000002.11:g.21257775T>C

Nucleotide change:

IVS7AS, A-G, -2

Links:

OMIM: 107730.0018; dbSNP: rs1572800245

NCBI 1000 Genomes Browser:

rs1572800245

Molecular consequence:

NM_000384.3:c.819-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Familial hypobetalipoproteinemia (FHBL)
Synonyms:: Hypobetalipoproteinemia, familial, associated with apob39; Hypobetalipoproteinemia, familial, associated with apob40; Hypobetalipoproteinemia, familial, associated with apob90 or apob89; See all synonyms [MedGen]
Identifiers:: MedGen: C1862596

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039784	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000039784

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2002)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation.

Hegele RA, Miskie BA.

Clin Genet. 2002 Feb;61(2):101-3.

PubMed [citation]

PMID:: 11940084

Details of each submission

From OMIM, SCV000039784.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Hegele and Miskie (2002) described acanthocytosis in a 31-year-old woman with homozygous familial hypobetalipoproteinemia (615558) due to a splicing mutation in the APOB gene, IVS7-2A-G. Treatment with fat-soluble vitamins was associated with arrest of the usually progressive neurologic complications of this condition. However, acanthocytosis persisted. The diagnosis of hypobetalipoproteinemia was made at the age of 11 years on the basis of acanthocytosis and the absence of apoB-containing lipoproteins. The consanguineous parents were heterozygotes.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 5, 2025

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